バート・ホッグ・デュベ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_144997.7(FLCN):c.1301-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17118632	17118632	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398531521
single nucleotide variant	NM_144997.7(FLCN):c.1300+2T>G	FLCN	Pathogenic	17	17119692	17119692	A	C	criteria provided, single submitter	ClinGen:CA16620338
single nucleotide variant	NM_144997.7(FLCN):c.1300+1G>A	FLCN	Pathogenic/Likely pathogenic	17	17119693	17119693	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586255
single nucleotide variant	NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter)	FLCN	Pathogenic	17	17119694	17119694	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398531571
Duplication	NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)	FLCN	Pathogenic	17	17119706	17119707	C	CGT	criteria provided, single submitter	ClinGen:CA658656536
Duplication	NM_144997.7(FLCN):c.1286dup (p.His429fs)	FLCN	Pathogenic	17	17119707	17119708	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586256
Duplication	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN	Pathogenic	17	17119708	17119709	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA090951,OMIM:607273.0001
Insertion	NM_144997.7(FLCN):c.1285_1286insG (p.His429fs)	FLCN	Pathogenic	17	17119708	17119709	T	TC	criteria provided, single submitter	ClinGen:CA16620339
Deletion	NM_144997.7(FLCN):c.1285del (p.His429fs)	FLCN	Pathogenic	17	17119709	17119709	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224154,OMIM:607273.0002
Deletion	NM_144997.7(FLCN):c.1252del (p.Leu418fs)	FLCN	Pathogenic	17	17119742	17119742	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348602